{ "url": "https://dantelabs.com/ro/genes/maged2", "gene": { "slug": "maged2", "symbol": "MAGED2", "name": "MAGE family member D2", "hgnc": "HGNC:16353", "summary": null, "location": "Xp11.21", "locusType": "gene with protein product", "aliases": [ "JCL-1", "BCG1", "11B6", "MAGE-D2", "HCA10", "MAGED", "MGC8386" ], "previousSymbols": [], "ensemblId": "ENSG00000102316", "entrezId": 10916, "omim": [ "300470" ], "uniprot": [ "Q9UNF1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 54807745, "end": 54816015, "strand": "+", "ensemblTranscript": "ENST00000375068.6", "refseqTranscript": "NM_177433.3", "ensemblProtein": "ENSP00000364209.1", "refseqProtein": "NP_803182.1", "exons": [ { "start": 54807745, "end": 54807802 }, { "start": 54809303, "end": 54809376 }, { "start": 54809722, "end": 54810213 }, { "start": 54810821, "end": 54811129 }, { "start": 54811250, "end": 54811313 }, { "start": 54811574, "end": 54811653 }, { "start": 54812157, "end": 54812251 }, { "start": 54812945, "end": 54813024 }, { "start": 54813118, "end": 54813160 }, { "start": 54813488, "end": 54813550 }, { "start": 54814661, "end": 54814775 }, { "start": 54815248, "end": 54815690 }, { "start": 54815881, "end": 54816015 } ], "cds": { "start": 54809332, "end": 54815682 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 54834032, "end": 54842445, "strand": "+" }, "neighbourhood": { "release": "116", "start": 54311880, "end": 55311879, "genes": [ { "symbol": "WNK3", "ensemblId": "ENSG00000196632", "biotype": "protein_coding", "start": 54192823, "end": 54358642, "strand": "-", "slug": "wnk3" }, { "symbol": "TSR2", "ensemblId": "ENSG00000158526", "biotype": "protein_coding", "start": 54440402, "end": 54448640, "strand": "+", "slug": "tsr2" }, { "symbol": "FGD1", "ensemblId": "ENSG00000102302", "biotype": "protein_coding", "start": 54445454, "end": 54496248, "strand": "-", "slug": "fgd1" }, { "symbol": "GNL3L", "ensemblId": "ENSG00000130119", "biotype": "protein_coding", "start": 54529900, "end": 54621565, "strand": "+", "slug": "gnl3l" }, { "symbol": "ITIH6", "ensemblId": "ENSG00000102313", "biotype": "protein_coding", "start": 54748918, "end": 54798255, "strand": "-", "slug": "itih6" }, { "symbol": "TRO", "ensemblId": "ENSG00000067445", "biotype": "protein_coding", "start": 54920462, "end": 54931436, "strand": "+", "slug": "tro" }, { "symbol": "PFKFB1", "ensemblId": "ENSG00000158571", "biotype": "protein_coding", "start": 54931434, "end": 54994789, "strand": "-", "slug": "pfkfb1" }, { "symbol": "APEX2", "ensemblId": "ENSG00000169188", "biotype": "protein_coding", "start": 55000323, "end": 55009057, "strand": "+", "slug": "apex2" }, { "symbol": "ALAS2", "ensemblId": "ENSG00000158578", "biotype": "protein_coding", "start": 55009055, "end": 55030986, "strand": "-", "slug": "alas2" }, { "symbol": "PAGE2B", "ensemblId": "ENSG00000238269", "biotype": "protein_coding", "start": 55028123, "end": 55078913, "strand": "+", "slug": "page2b" }, { "symbol": "PAGE2", "ensemblId": "ENSG00000234068", "biotype": "protein_coding", "start": 55089011, "end": 55092842, "strand": "+", "slug": "page2" }, { "symbol": "VCF2", "ensemblId": "ENSG00000182518", "biotype": "protein_coding", "start": 55143102, "end": 55161310, "strand": "-", "slug": "vcf2" }, { "symbol": "PAGE5", "ensemblId": "ENSG00000158639", "biotype": "protein_coding", "start": 55211094, "end": 55224116, "strand": "+", "slug": "page5" }, { "symbol": "PAGE3", "ensemblId": "ENSG00000204279", "biotype": "protein_coding", "start": 55257591, "end": 55264927, "strand": "-", "slug": "page3" } ], "truncated": false }, "reports": [ { "slug": "bartter-disease", "name": "Sindromul Bartter", "diseases": [ { "mondoId": "MONDO:0010503", "name": "Sindromul Bartter de tip 5", "genes": 1, "inheritance": "x-linked-recessive", "description": "Orice sindrom Bartter în care cauza bolii este o mutație a genei MAGED2.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0015231", "name": "Sindromul Bartter", "genes": 5, "inheritance": null, "description": "Un grup de tulburări ereditare ale tubulilor renali care duc la pierderi excesive de sare, cauzate de gene precum SLC12A1, KCNJ1, CLCNKB, BSND și CASR, și care se caracterizează prin nivel scăzut de potasiu, alcaloză metabolică și calciu urinar crescut.", "management": "Cunoașterea acestei afecțiuni ghidează înlocuirea sării și a potasiului, precum și monitorizarea creșterii și a calcificării renale.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/bartter-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "increased-circulating-renin-concentration", "name": "Elevated blood renin level", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/increased-circulating-renin-concentration" }, { "slug": "hypercalciuria", "name": "Elevated urine calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypercalciuria" }, { "slug": "fetal-polyuria", "name": "Fetal polyuria", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/fetal-polyuria" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "polyuria", "name": "Increased urine output", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/polyuria" }, { "slug": "hypochloremia", "name": "Low blood chloride levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypochloremia" }, { "slug": "hypokalemia", "name": "Low blood potassium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypokalemia" }, { "slug": "hyponatremia", "name": "Low blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyponatremia" }, { "slug": "medullary-nephrocalcinosis", "name": "Medullary nephrocalcinosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/medullary-nephrocalcinosis" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/premature-birth" } ], "related": [ { "slug": "bsnd", "symbol": "BSND", "name": "barttin CLCNK type accessory subunit beta", "shared": 1, "url": "https://dantelabs.com/ro/genes/bsnd" }, { "slug": "clcnkb", "symbol": "CLCNKB", "name": "chloride voltage-gated channel Kb", "shared": 1, "url": "https://dantelabs.com/ro/genes/clcnkb" }, { "slug": "kcnj1", "symbol": "KCNJ1", "name": "potassium inwardly rectifying channel subfamily J member 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/kcnj1" }, { "slug": "slc12a1", "symbol": "SLC12A1", "name": "solute carrier family 12 member 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/slc12a1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }